Variant report

Variant	nsv1027623
Chromosome Location	chr4:160758359-160837885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:160637612..160639722-chr4:160777878..160779378,2	K562	blood:
2	chr2:111484229..111485095-chr4:160826041..160826792,2	MCF-7	breast:
3	chr4:160832633..160834306-chr4:160857852..160860490,2	MCF-7	breast:
4	chr4:160685499..160686183-chr4:160832505..160833090,2	MCF-7	breast:

Extended variants
information (count: 1687 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1687 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528674413	chr4:160758364-160758365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551641375	chr4:160758430-160758431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146460496	chr4:160758479-160758480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140792726	chr4:160758512-160758513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186961718	chr4:160758581-160758582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191550819	chr4:160758598-160758599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184414745	chr4:160758639-160758640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553526527	chr4:160758645-160758646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572238677	chr4:160758714-160758715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150111580	chr4:160758779-160758780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369564313	chr4:160758785-160758786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577918146	chr4:160758803-160758804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377169856	chr4:160758878-160758879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543359848	chr4:160758895-160758896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188755470	chr4:160758901-160758902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145483904	chr4:160758950-160758951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1031638	chr4:160758955-160758956	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs193109770	chr4:160758957-160758958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376221177	chr4:160758960-160758961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72978858	chr4:160758994-160758995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72978861	chr4:160759004-160759005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148811496	chr4:160759027-160759028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147012507	chr4:160759063-160759064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550994114	chr4:160759117-160759118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1031637	chr4:160759124-160759125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs530134609	chr4:160759142-160759143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534835758	chr4:160759171-160759172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547101775	chr4:160759205-160759206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116163452	chr4:160759267-160759268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534810718	chr4:160759314-160759315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200761869	chr4:160759316-160759317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs897930	chr4:160759356-160759357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs1457804	chr4:160766411-160766412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs150891779	chr4:160766450-160766451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139363619	chr4:160766463-160766464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551243252	chr4:160766466-160766467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113262935	chr4:160766468-160766469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544194617	chr4:160766524-160766525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113834171	chr4:160766540-160766541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536915628	chr4:160766688-160766689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1840992	chr4:160766707-160766708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191508563	chr4:160766712-160766713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369576760	chr4:160766756-160766757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535878977	chr4:160766832-160766833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1840993	chr4:160766837-160766838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35281169	chr4:160766847-160766848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572898839	chr4:160766853-160766854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374253981	chr4:160766880-160766881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140079053	chr4:160766928-160766929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532534556	chr4:160766987-160766988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160758200-160758600	Enhancers	Brain Anterior Caudate	brain
2	chr4:160758200-160758600	Enhancers	Brain Hippocampus Middle	brain
3	chr4:160758200-160759400	Enhancers	Brain Substantia Nigra	brain
4	chr4:160766400-160767000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:160767000-160768200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:160771000-160783800	Weak transcription	Pancreas	Pancrea
7	chr4:160776000-160776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:160776400-160777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:160777000-160778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:160777400-160777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:160777400-160778800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:160777600-160778000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:160777600-160778000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:160777600-160778200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:160777600-160778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:160777600-160778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:160777600-160778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:160777800-160779200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:160778200-160778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:160778600-160779000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:160778600-160779000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:160782200-160783000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:160783000-160784200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:160784200-160785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:160784600-160784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:160784800-160787600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:160787200-160799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:160787600-160788200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:160798400-160799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:160799000-160799400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:160806200-160806600	Enhancers	Fetal Kidney	kidney
32	chr4:160807200-160809600	Weak transcription	Pancreas	Pancrea
33	chr4:160822200-160824800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr4:160822600-160822800	Enhancers	Pancreas	Pancrea
35	chr4:160822600-160823400	Enhancers	Fetal Kidney	kidney
36	chr4:160822600-160824600	Enhancers	Fetal Intestine Large	intestine
37	chr4:160822800-160829200	Weak transcription	Pancreas	Pancrea
38	chr4:160826000-160826400	Enhancers	HSMMtube	muscle
39	chr4:160827400-160828000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:160827600-160828000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:160829200-160829600	Genic enhancers	Pancreas	Pancrea
42	chr4:160829600-160830000	Enhancers	Pancreas	Pancrea
43	chr4:160836000-160836200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:160836400-160837000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:160837000-160837200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:160837200-160837800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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